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Autosomal dominant hypocalcemia

ORPHA:428 · Clinical subtype · Subtype of disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(11)

  • AnxietyHP:0000739
  • Atypical behaviorHP:0000708
  • Cortical myoclonusHP:0040148
  • DepressionHP:0000716
  • EMG abnormalityHP:0003457
  • Emotional labilityHP:0000712
  • Fatigable weaknessHP:0003473
  • HypercalciuriaHP:0002150
  • HypocalcemiaHP:0002901
  • ParesthesiaHP:0003401
  • Writer's crampHP:0002356

Frequent (79-30%)(12)

  • Abdominal painHP:0002027
  • Abnormal fingernail morphologyHP:0001231
  • Abnormal nail morphologyHP:0001597
  • Abnormal pattern of respirationHP:0002793
  • AlopeciaHP:0001596
  • ArrhythmiaHP:0011675
  • Dry skinHP:0000958
  • HypermagnesiuriaHP:0012608
  • HyperphosphatemiaHP:0002905
  • HypomagnesemiaHP:0002917
  • HypotensionHP:0002615
  • NephrocalcinosisHP:0000121

Occasional (29-5%)(7)

  • Congestive heart failureHP:0001635
  • Eczematoid dermatitisHP:0000964
  • Increased intracranial pressureHP:0002516
  • Irregular hyperpigmentationHP:0007400
  • Optic atrophyHP:0000648
  • Reduced bone mineral densityHP:0004349
  • Reduced consciousnessHP:0004372